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Previously known to be caused by defects in type I collagen, the major protein of extracellular matrix, it is now also understood to be a collagen-related disorder caused by defects in collagen folding, posttranslational modification and processing, bone mineralization, and osteoblast differentiation, with inheritance of OI types spanning autosomal dominant and recessive as well as X-linked recessive. This review provides the latest updates on OI, encompassing both classical OI and rare forms, their mechanism, and the signaling pathways involved in their pathophysiology. There is a special emphasis on mutations in type I procollagen C-propeptide structure and processing, the later causing OI with strikingly high bone mass. Types V and VI OI, while notably different, are shown to be interrelated by the interferon-induced transmembrane protein 5 p.S40L mutation that reveals the connection between the bone-restricted interferon-induced transmembrane protein-like protein and pigment epithelium-derived factor pathways. The function of regulated intramembrane proteolysis has been extended beyond cholesterol metabolism to bone formation by defects in regulated membrane proteolysis components site-2 protease and old astrocyte specifically induced-substance. Several recently proposed candidate genes for new types of OI are also presented. Discoveries of new OI genes add complexity to already-challenging OI management; current and potential approaches are summarized.<\/jats:p>","DOI":"10.1210\/endrev\/bnab017","type":"journal-article","created":{"date-parts":[[2021,5,19]],"date-time":"2021-05-19T06:28:33Z","timestamp":1621405713000},"page":"61-90","source":"Crossref","is-referenced-by-count":167,"title":["Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types"],"prefix":"10.1210","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6583-6904","authenticated-orcid":false,"given":"Milena","family":"Jovanovic","sequence":"first","affiliation":[{"name":"Section on Heritable Disorders of Bone and Extracellular Matrix, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8583-3401","authenticated-orcid":false,"given":"Gali","family":"Guterman-Ram","sequence":"additional","affiliation":[{"name":"Section on Heritable Disorders of Bone and Extracellular Matrix, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3685-0950","authenticated-orcid":false,"given":"Joan C","family":"Marini","sequence":"additional","affiliation":[{"name":"Section on Heritable Disorders of Bone and Extracellular Matrix, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2021,5,18]]},"reference":[{"issue":"5","key":"2022011306531827900_CIT0001","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1007\/s00223-013-9770-2","article-title":"Teriparatide treatment in adult patients with osteogenesis imperfecta type I","volume":"93","author":"Gatti","year":"2013","journal-title":"Calcif Tissue Int."},{"issue":"2","key":"2022011306531827900_CIT0002","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1172\/JCI71101","article-title":"Evaluation of teriparatide treatment in adults with osteogenesis imperfecta","volume":"124","author":"Orwoll","year":"2014","journal-title":"J Clin Invest."},{"key":"2022011306531827900_CIT0003","doi-asserted-by":"crossref","first-page":"115703","DOI":"10.1016\/j.bone.2020.115703","article-title":"Widespread disturbance in extracellular matrix collagen biomarker responses to teriparatide therapy in osteogenesis imperfecta","volume":"142","author":"Nicol","year":"2021","journal-title":"Bone."},{"issue":"10028","key":"2022011306531827900_CIT0004","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1016\/S0140-6736(15)00728-X","article-title":"Osteogenesis imperfecta","volume":"387","author":"Forlino","year":"2016","journal-title":"Lancet."},{"issue":"7","key":"2022011306531827900_CIT0005","doi-asserted-by":"crossref","first-page":"2052","DOI":"10.1096\/fasebj.5.7.2010058","article-title":"Mutations in collagen genes: causes of rare and some common diseases in humans","volume":"5","author":"Kuivaniemi","year":"1991","journal-title":"Faseb J."},{"issue":"5","key":"2022011306531827900_CIT0006","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1111\/j.1365-2362.1995.tb01706.x","article-title":"Hydroxylation of collagen type I: evidence that both lysyl and prolyl residues are overhydroxylated in osteogenesis imperfecta","volume":"25","author":"Lehmann","year":"1995","journal-title":"Eur J Clin Invest."},{"key":"2022011306531827900_CIT0007","doi-asserted-by":"crossref","DOI":"10.1016\/j.matbio.2020.02.003","article-title":"Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasia","author":"Cabral","year":"2020;90:20-39","journal-title":"Matrix Biol."},{"key":"2022011306531827900_CIT0008","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1042\/bse0520113","article-title":"Lysine post-translational modifications of collagen","volume":"52","author":"Yamauchi","year":"2012","journal-title":"Essays Biochem."},{"issue":"53","key":"2022011306531827900_CIT0009","doi-asserted-by":"crossref","first-page":"37923","DOI":"10.1074\/jbc.274.53.37923","article-title":"Use of the Cre\/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. 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